BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

360 related articles for article (PubMed ID: 16585051)

  • 21. DNM2 mutations in Chinese Han patients with centronuclear myopathy.
    Lin P; Liu X; Zhao D; Dai T; Wu H; Gong Y; Yan C
    Neurol Sci; 2016 Jun; 37(6):995-8. PubMed ID: 26908122
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
    Catteruccia M; Fattori F; Codemo V; Ruggiero L; Maggi L; Tasca G; Fiorillo C; Pane M; Berardinelli A; Verardo M; Bragato C; Mora M; Morandi L; Bruno C; Santoro L; Pegoraro E; Mercuri E; Bertini E; D'Amico A
    Neuromuscul Disord; 2013 Mar; 23(3):229-38. PubMed ID: 23394783
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Reducing dynamin 2 (DNM2) rescues
    Buono S; Ross JA; Tasfaout H; Levy Y; Kretz C; Tayefeh L; Matson J; Guo S; Kessler P; Monia BP; Bitoun M; Ochala J; Laporte J; Cowling BS
    Proc Natl Acad Sci U S A; 2018 Oct; 115(43):11066-11071. PubMed ID: 30291191
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation.
    Hanna N; Bouhenni R; Gupta B; Abu-Amero KK; Wollmann R; Edward DP
    Ophthalmic Genet; 2013; 34(1-2):83-6. PubMed ID: 22924779
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A dog model for centronuclear myopathy carrying the most common DNM2 mutation.
    Böhm J; Barthélémy I; Landwerlin C; Blanchard-Gutton N; Relaix F; Blot S; Laporte J; Tiret L
    Dis Model Mech; 2022 Apr; 15(4):. PubMed ID: 35244154
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Myotonia in DNM2-related centronuclear myopathy.
    Dabby R; Sadeh M; Gilad R; Jurkat-Rott K; Lehmann-Horn F; Leshinsky-Silver E
    J Neural Transm (Vienna); 2014 May; 121(5):549-53. PubMed ID: 24366529
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
    Böhm J; Biancalana V; Dechene ET; Bitoun M; Pierson CR; Schaefer E; Karasoy H; Dempsey MA; Klein F; Dondaine N; Kretz C; Haumesser N; Poirson C; Toussaint A; Greenleaf RS; Barger MA; Mahoney LJ; Kang PB; Zanoteli E; Vissing J; Witting N; Echaniz-Laguna A; Wallgren-Pettersson C; Dowling J; Merlini L; Oldfors A; Bomme Ousager L; Melki J; Krause A; Jern C; Oliveira AS; Petit F; Jacquette A; Chaussenot A; Mowat D; Leheup B; Cristofano M; Poza Aldea JJ; Michel F; Furby A; Llona JE; Van Coster R; Bertini E; Urtizberea JA; Drouin-Garraud V; Béroud C; Prudhon B; Bedford M; Mathews K; Erby LA; Smith SA; Roggenbuck J; Crowe CA; Brennan Spitale A; Johal SC; Amato AA; Demmer LA; Jonas J; Darras BT; Bird TD; Laurino M; Welt SI; Trotter C; Guicheney P; Das S; Mandel JL; Beggs AH; Laporte J
    Hum Mutat; 2012 Jun; 33(6):949-59. PubMed ID: 22396310
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
    Wang Q; Yu M; Xie Z; Liu J; Wang Q; Lv H; Zhang W; Yuan Y; Wang Z
    Neurol Sci; 2022 Apr; 43(4):2803-2811. PubMed ID: 34595679
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [The dynamin-2-gene related centronuclear myopathy].
    Bitoun M
    Med Sci (Paris); 2023 Nov; 39 Hors série n° 1():6-10. PubMed ID: 37975763
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.
    Gibbs EM; Clarke NF; Rose K; Oates EC; Webster R; Feldman EL; Dowling JJ
    J Mol Med (Berl); 2013 Jun; 91(6):727-37. PubMed ID: 23338057
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
    Fujise K; Okubo M; Abe T; Yamada H; Takei K; Nishino I; Takeda T; Noguchi S
    Hum Mutat; 2022 Feb; 43(2):169-179. PubMed ID: 34837441
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Impaired excitation-contraction coupling in muscle fibres from the dynamin2
    Kutchukian C; Szentesi P; Allard B; Trochet D; Beuvin M; Berthier C; Tourneur Y; Guicheney P; Csernoch L; Bitoun M; Jacquemond V
    J Physiol; 2017 Dec; 595(24):7369-7382. PubMed ID: 29071728
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres.
    Casar-Borota O; Jacobsson J; Libelius R; Oldfors CH; Malfatti E; Romero NB; Oldfors A
    Neuromuscul Disord; 2015 Apr; 25(4):345-8. PubMed ID: 25633151
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
    Cowling BS; Chevremont T; Prokic I; Kretz C; Ferry A; Coirault C; Koutsopoulos O; Laugel V; Romero NB; Laporte J
    J Clin Invest; 2014 Mar; 124(3):1350-63. PubMed ID: 24569376
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
    Böhm J; Biancalana V; Malfatti E; Dondaine N; Koch C; Vasli N; Kress W; Strittmatter M; Taratuto AL; Gonorazky H; Laforêt P; Maisonobe T; Olivé M; Gonzalez-Mera L; Fardeau M; Carrière N; Clavelou P; Eymard B; Bitoun M; Rendu J; Fauré J; Weis J; Mandel JL; Romero NB; Laporte J
    Brain; 2014 Dec; 137(Pt 12):3160-70. PubMed ID: 25260562
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Centronuclear myopathies: a widening concept.
    Romero NB
    Neuromuscul Disord; 2010 Apr; 20(4):223-8. PubMed ID: 20181480
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
    Abath Neto O; Moreno CAM; Malfatti E; Donkervoort S; Böhm J; Guimarães JB; Foley AR; Mohassel P; Dastgir J; Bharucha-Goebel DX; Monges S; Lubieniecki F; Collins J; Medne L; Santi M; Yum S; Banwell B; Salort-Campana E; Rendu J; Fauré J; Yis U; Eymard B; Cheraud C; Schneider R; Thompson J; Lornage X; Mesrob L; Lechner D; Boland A; Deleuze JF; Reed UC; Oliveira ASB; Biancalana V; Romero NB; Bönnemann CG; Laporte J; Zanoteli E
    Neuromuscul Disord; 2017 Nov; 27(11):975-985. PubMed ID: 28818389
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
    Bitoun M; Stojkovic T; Prudhon B; Maurage CA; Latour P; Vermersch P; Guicheney P
    Neuromuscul Disord; 2008 Apr; 18(4):334-8. PubMed ID: 18394888
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Centronuclear (myotubular) myopathy.
    Jungbluth H; Wallgren-Pettersson C; Laporte J
    Orphanet J Rare Dis; 2008 Sep; 3():26. PubMed ID: 18817572
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
    Toussaint A; Cowling BS; Hnia K; Mohr M; Oldfors A; Schwab Y; Yis U; Maisonobe T; Stojkovic T; Wallgren-Pettersson C; Laugel V; Echaniz-Laguna A; Mandel JL; Nishino I; Laporte J
    Acta Neuropathol; 2011 Feb; 121(2):253-66. PubMed ID: 20927630
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.